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A Treatable Neurometabolic Disorder : Glutaric Aciduria Type 1
Joint Authors
Pusti, S.
Nayek, K.
Das, N.
Biswas, S.
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-01-27
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase.
It results in the accumulation of 3-hydroxyglutaric and glutaric acid.
Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age.
We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1.
American Psychological Association (APA)
Pusti, S.& Das, N.& Nayek, K.& Biswas, S.. 2014. A Treatable Neurometabolic Disorder : Glutaric Aciduria Type 1. Case Reports in Pediatrics،Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-457861
Modern Language Association (MLA)
Pusti, S.…[et al.]. A Treatable Neurometabolic Disorder : Glutaric Aciduria Type 1. Case Reports in Pediatrics No. 2014 (2014), pp.1-3.
https://search.emarefa.net/detail/BIM-457861
American Medical Association (AMA)
Pusti, S.& Das, N.& Nayek, K.& Biswas, S.. A Treatable Neurometabolic Disorder : Glutaric Aciduria Type 1. Case Reports in Pediatrics. 2014. Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-457861
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-457861